Canonical Allele Identifier: CA393058888

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637883G>A (hg19) ; chr15:g.72345542G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345542G>A , CM000677.2:g.72345542G>A	GRCh38
NC_000015.9:g.72637883G>A , CM000677.1:g.72637883G>A	GRCh37
NC_000015.8:g.70424937G>A	NCBI36
NG_009017.1:g.35638C>T
NG_009017.2:g.35638C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*90C>T	ENSP00000457521.2:n.*90C>T
ENST00000682061.1:c.*1776C>T	ENSP00000508316.1:n.*1776C>T
ENST00000682064.1:n.1657C>T
ENST00000682177.1:c.1473C>T	ENSP00000507409.1:n.1473C>T
ENST00000682235.1:n.1453C>T
ENST00000682461.1:c.1536C>T	ENSP00000507308.1:n.1536C>T
ENST00000682653.1:n.2434C>T
ENST00000682657.1:c.*1267C>T	ENSP00000507753.1:n.*1267C>T
ENST00000682721.1:c.*1233C>T	ENSP00000507535.1:n.*1233C>T
ENST00000682843.1:c.*1071C>T	ENSP00000508173.1:n.*1071C>T
ENST00000683003.1:c.*1267C>T	ENSP00000507576.1:n.*1267C>T
ENST00000683133.1:c.1614C>T	ENSP00000508108.1:n.1614C>T
ENST00000683243.1:c.*583C>T	ENSP00000507042.1:n.*583C>T
ENST00000683463.1:c.*919C>T	ENSP00000507986.1:n.*919C>T
ENST00000683548.1:n.1888C>T
ENST00000683579.1:c.*1328C>T	ENSP00000506867.1:n.*1328C>T
ENST00000683587.1:n.1961C>T
ENST00000683681.1:c.*108C>T	ENSP00000508110.1:n.*108C>T
ENST00000683735.1:c.*1828C>T	ENSP00000508336.1:n.*1828C>T
ENST00000683853.1:c.*235C>T	ENSP00000506834.1:n.*235C>T
ENST00000683860.1:c.*550C>T	ENSP00000507179.1:n.*550C>T
ENST00000683884.1:c.*757C>T	ENSP00000507004.1:n.*757C>T
ENST00000684041.1:c.*563C>T	ENSP00000508382.1:n.*563C>T
ENST00000684125.1:c.*90C>T	ENSP00000507320.1:n.*90C>T
ENST00000684203.1:n.3879C>T
ENST00000684231.1:c.*840C>T	ENSP00000507748.1:n.*840C>T
ENST00000684263.1:c.*1054C>T	ENSP00000508369.1:n.*1054C>T
ENST00000684305.1:c.1878C>T	ENSP00000506819.1:n.1878C>T
ENST00000684415.1:c.*981C>T	ENSP00000507227.1:n.*981C>T
ENST00000684520.1:c.*689C>T	ENSP00000506826.1:n.*689C>T
ENST00000684602.1:c.*1096C>T	ENSP00000507996.1:n.*1096C>T
ENST00000684667.1:c.1761C>T	ENSP00000507003.1:n.1761C>T
ENST00000268097.10:c.1430C>T MANE Select	ENSP00000268097.6:p.Ala477Val
ENST00000268097.9:c.1430C>T	ENSP00000268097.5:p.Ala477Val
ENST00000379915.4:c.512C>T	ENSP00000478716.1:p.Ala171Val
ENST00000564677.5:n.222C>T
ENST00000565873.1:n.341C>T
ENST00000566304.5:c.1463C>T	ENSP00000455114.1:p.Ala488Val
ENST00000567027.5:c.1045C>T
ENST00000567159.5:c.1430C>T	ENSP00000456489.1:p.Ala477Val
ENST00000567411.5:c.*951C>T	ENSP00000455545.1:n.*951C>T
ENST00000568777.5:n.6650C>T
ENST00000569116.1:n.137C>T
NM_000520.4:c.1430C>T	NP_000511.2:p.Ala477Val
NM_000520.5:c.1430C>T	NP_000511.2:p.Ala477Val
NM_001318825.1:c.1463C>T	NP_001305754.1:p.Ala488Val
NR_134869.1:n.1674C>T
NM_000520.6:c.1430C>T MANE Select	NP_000511.2:p.Ala477Val
NM_001318825.2:c.1463C>T	NP_001305754.1:p.Ala488Val
NR_134869.2:n.1215C>T
NR_134869.3:n.1215C>T